Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2011

Dusatkova Petra, Pruhova Stepanka, Sumnik Zdenek, Kolouskova Stanislava, Obermannova Barbora, Cinek Ondrej, Lebl Jan

Abstract excerpt

BACKGROUND: HNF1A-MODY (MODY3) is a common subtype of autosomal dominant diabetes. Unlike HNF4-MODY where fetal macrosomia and early postnatal hyperinsulinemic hypoglycemia have been reported, history of transient insulin overproduction has not yet been recognized in individuals with HNF1A-MODY. CASE REPORT: Here, we report on a 40-year-old male patient with HNF1A mutation p.Arg272His (c.815G>A) having a history...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hepatocyte Nuclear Factor 1-alpha

Share to Hypoglycemia

Share to Mutation

Share to Pancreatic function and diabetes

Share to Pedigree

Share to Prediabetic State

Source

Identifiers

PMID: 21648289
DOI: 10.1515/jpem.2011.083

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes.PMID 21648289Read ↗

Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A GeneSemantic proximity Read ↗

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.Semantic proximity Read ↗

Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.Semantic proximity Read ↗

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.Semantic proximity Read ↗

A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes.Semantic proximity Read ↗

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.Semantic proximity Read ↗

Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.Semantic proximity Read ↗

A rare combination of MODY5 and duodenal atresia in a patient: a case report.Semantic proximity Read ↗

Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother.Semantic proximity Read ↗

Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene.Semantic proximity Read ↗

Management of pregnancy in women with monogenic diabetes due to mutations in GCK, HNF1A and HNF4A genesSemantic proximity Read ↗

Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the YoungSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.